natriuretic-peptide--c-type and Hypophosphatasia

This review highlights how skeletal dysplasias are diagnosed and how our understanding of some of these conditions has now translated to treatment options.. The use of multigene panels, using next-generation sequence technology, has improved our ability to quickly identify the genetic etiology, which can impact management. There are successes with the use of growth hormone in individuals with SHOX deficiencies, asfotase alfa in hypophosphatasia, and some promising data for c-type natriuretic peptide for those with achondroplasia. One needs to consider that a patient with short stature has a skeletal dysplasia as options for management may be available.

Topics: Achondroplasia; Alkaline Phosphatase; Bone Diseases, Developmental; Enzyme Replacement Therapy; Genetic Testing; High-Throughput Nucleotide Sequencing; Human Growth Hormone; Humans; Hypophosphatasia; Immunoglobulin G; Natriuretic Agents; Natriuretic Peptide, C-Type; Osteochondrodysplasias; Osteogenesis Imperfecta; Radiography; Recombinant Fusion Proteins; Recombinant Proteins; Sequence Analysis, DNA; Short Stature Homeobox Protein

Skeletal dysplasia is the term which represents disorders including growth and differentiation of bone, cartilage and ligament. A lot of diseases are included, and new disorders have been added. However, the therapy of most bone diseases is less well-established. Achondroplasia, hypochondroplasia, and osteogenesis imperfecta are most frequent bone diseases. There is no curative treatment for these diseases, however, supportive therapies are available ; for example, growth-hormone therapy for achondroplasia and hypochondroplasia, and bisphosphonate therapy for osteogenesis imperfecta. In addition, enzyme replacement therapy for hypophosphatasia is now on clinical trial.

Topics: Achondroplasia; Alkaline Phosphatase; Animals; Bone and Bones; Bone Density Conservation Agents; Collagen Type I; Collagen Type I, alpha 1 Chain; Diphosphonates; Dwarfism; Humans; Hypophosphatasia; Limb Deformities, Congenital; Lordosis; Mice; Molecular Targeted Therapy; Mutation; Natriuretic Peptide, C-Type; Osteogenesis Imperfecta; Pamidronate; Receptor, Fibroblast Growth Factor, Type 3; Recombinant Proteins